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BACKGROUND: Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. People living with SCD in Europe mainly belong to vulnerable minorities, have a lower level of health education and suffer from isolation compared to those living with other chronic conditions. As a result, SCD patients are much less likely to partner in the design of research related to their condition and are limited in their ability to influence the research agenda. Aiming to increase the influence of patient voice in the development of SCD-related research, we set out to develop patient centered actions in the frame of International Scientific Conferences in collaboration with the ERN-EuroBloodNet, Oxford Blood Group, Annual Sickle Cell Disease and Thalassaemia Conference (ASCAT), the European Hematology Association and the British Society of Hematology. RESULTS: Two events were organized: a one-day research prioritization workshop and a series of education sessions based on topics chosen by SCD patients and their families. Methodology and outcomes were analyzed in terms of influence on scientific, medical and patient communities. CONCLUSION: The ERN-EuroBloodNet workshops with patients at annual ASCAT conferences have provided an opportunity to enhance patient experience and empowerment in SCD in Europe, producing benefits for patients, caregivers, patient associations and health professionals. Future work should focus on delivering the research questions identified at this workshop and the opportunities to share information for patient education.
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Anemia de Células Falciformes , Participación del Paciente , Humanos , Cuidadores , Calidad de Vida , Europa (Continente)RESUMEN
Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In 2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference Networks (ERNs) were created, including the ERN on Rare Haematological Diseases (ERN-EuroBloodNet), dedicated to rare haematological diseases. This EU initiative has made it possible to accentuate existing collaborations and create new ones. The project also made it possible to list all the needs of people with rare haematological diseases not yet covered health-care providers in the EU to allow optimised care of individuals with rare pathologies, including sickle cell disease. This Viewpoint is the result of joint work within 12 EU member states (ie, Belgium, Cyprus, Denmark, France, Germany, Greece, Ireland, Italy, Portugal, Spain, Sweden, and The Netherlands), all members of the ERN-EuroBloodNet. We describe the role of the ERN-EuroBloodNet to improve the overall approach to and the management of individuals with sickle cell disease in the EU through specific on the pooling of expertise, knowledge, and best practices; the development of training and education programmes; the strategy for systematic gathering and standardisation of clinical data; and its reuse in clinical research. Epidemiology and research strategies from ongoing implementation of the Rare Anaemia Disorders European Epidemiological Platform is depicted.
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Anemia de Células Falciformes , Enfermedades Raras , Humanos , Países Bajos , Alemania , Grecia , Italia , Enfermedades Raras/epidemiología , Enfermedades Raras/terapia , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/terapia , Europa (Continente)/epidemiologíaRESUMEN
BACKGROUND: Neonatal screening is the first action necessary to identify children with sickle cell disease (SCD) and thus ensure their care. Using rapid tests to give an immediate result to families is a new resilient approach of great interest. These two aspects are essential for establishing an adequate health policy for this disease. This study was undertaken in Kisangani to update the current incidence of neonatal SCD. METHODS: Heel prick blood samples of 1432 babies born from different racial groups of parents living in Kisangani were collected at birth and screened using a point of care test, i.e. the HemoTypeSCTM. RESULTS: The incidence at birth was 2.2% (n = 31; 95% CI: [1.5%-3.1%]) for HbSS homozygosity and 21% (n = 303; 95% CI: [19%-23%]) for HbAS heterozygosity. Compared to a previous study in 2010; the incidence at the birth of the HbSS form has doubled, while that of the heterozygous form HbAS remained almost unchanged. The inter-ethnic incidence of HbSS among the five top-represented ethnic groups was significant (<0.001). CONCLUSION: The prevalence of homozygote form has doubled compared to the 0.96% reported in 2010. Setting up a neonatal screening program and an awareness unit is necessary to assess the need for care services correctly.
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Anemia de Células Falciformes , Tamizaje Neonatal , Lactante , Recién Nacido , Niño , Humanos , República Democrática del Congo/epidemiología , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/genética , Hemoglobina Falciforme/genética , Pruebas en el Punto de Atención , Hemoglobina ARESUMEN
INTRODUCTION: This study investigates the potential contribution of structural and dispersion parameters, as well as alarms provided by Sysmex XN9000 haematology analyzer. The objective was to assess the need for a microscopic examination in the context of lymphocytosis. It also aims to contribute in differentiating rapidly lymphoproliferative disorders such as chronic lymphocytic leukaemia (CLL), non-chronic lymphocytic leukaemia (NON-CLL) and non-infectious reactive lymphocytosis (REAC). METHODS: We prospectively assessed lymphocyte parameters (Ly-X, Ly-Y, Ly-Z, Ly-WX, Ly-WY, Ly-WZ) provided by the Sysmex XN9000 analyzer; they were measured in the white blood cell differential (WDF) channel which also provides alarms via the precursor/pathological cellular channel (WPC). Blood samples from 71 subjects with CLL, NON-CLL lymphoproliferative and REAC non-infectious reactive lymphocytosis, as well as a control (NORM) group of 12 subjects without any abnormalities were analyzed. RESULTS: The most discriminating parameters to distinguish the different groups were Ly-X, Ly-Z and Ly-WZ. The lymphoid structural parameters Ly-X and Ly-Z significantly discriminated the CLL group from the other groups (p < 0.001), and the CLL group from the REAC group (p < 0.01), respectively. The Ly-WZ parameter discriminated the CLL group from the NON-CLL, REAC (p < 0.001) and NORM (p < 0.01) groups. Alarms were higher in all study groups compared to the NORM group. An algorithm integrating these structural and alarm parameters is proposed. CONCLUSION: This study demonstrated that Ly-X, Ly-Z, and Ly-WZ lymphocyte parameters are useful for detecting morphological changes in lymphocytes; they provide useful information for the differential diagnosis of lymphocytosis, and this before the examination of the blood smear. An algorithm combining the WDF (parameters) and the WPC (alarms) makes it possible to decide whether or not to use a microscopic examination or flow cytometry immunophenotyping.
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Hematología , Leucemia Linfocítica Crónica de Células B , Linfocitosis , Humanos , Linfocitosis/patología , Diagnóstico Diferencial , Linfocitos/patología , Leucemia Linfocítica Crónica de Células B/patologíaRESUMEN
Hereditary spherocytosis (HS) is the most common inherited chronic haemolytic anaemia in Northern Europe. During the last decade, additional erythrocyte and reticulocyte parameters have been developed on last-generation haematology analysers, leading to many publications about their effectiveness as a HS screening tool. For the first time on an independent cohort, we evaluated and compared the effectiveness of six published algorithms for the screening of HS using the UniCel DxH800 (Beckman-Coulter) and the XN-9000 (Sysmex) and determined which algorithm could be the most suitable in our daily clinical practice. A total of 95 EDTA samples were analysed prospectively on both haematology analysers. These included 11 confirmed HS patients and 84 non-HS patients. The specific reticulocyte parameters used on the DxH800 were mean reticulocyte volume, immature reticulocyte fraction and mean sphered cell volume, and on the XN-9000 were hypohaemoglobinised erythrocytes, microcytic erythrocytes and immature reticulocyte fraction. The three algorithms using parameters specific to Beckman-Coulter analysers provided a sensitivity of 100% with various specificities, ranging from 7.1 to 73.8%. The three algorithms published based on the parameters specific to Sysmex showed much lower performances, i.e. out of the 11 patients with HS, between one to five patients were screened as negative for HS. However, 100% sensitivity and specificity were reached using the EMA binding test concomitantly with those three algorithms. The algorithms using reticulocyte and erythrocyte parameters offered by the recent analysers are promising options as a HS first-tier screening tool. Nevertheless, they must be evaluated by each laboratory on their own analyser before implementation.
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Anemia Hemolítica Congénita , Esferocitosis Hereditaria , Algoritmos , Eritrocitos , Humanos , Recuento de Reticulocitos , Reticulocitos/metabolismo , Esferocitosis Hereditaria/diagnósticoAsunto(s)
Hemoglobinopatías , Hemoglobinas Anormales , Hemoglobinas Anormales/genética , Humanos , OxígenoRESUMEN
We report on a Pashtun family affected by haemoglobin D-Punjab/ß+-thalassemia to increase the awareness of the increasing prevalence of haemoglobinopathies among primary care physicians. We highlight the diagnostic approach of these conditions and the benefits of genetic counselling.
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Emigrantes e Inmigrantes , Hemoglobinopatías , Hemoglobinas Anormales , Talasemia beta , Humanos , Hemoglobinas Anormales/genética , Talasemia beta/diagnóstico , Talasemia beta/genética , Talasemia beta/epidemiología , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/genética , Bases de Datos GenéticasRESUMEN
INTRODUCTION: Hereditary spherocytosis (HS) is characterized by decreased erythrocyte deformability resulting in hemolytic anemia. This is a heterogeneous disease regarding underlying protein deficiency, disease severity, age at diagnosis and clinical course. Although largely considered as pediatric disease, HS could be initially diagnosed also in elder patients as a result of gallstones or splenomegaly fortuitous finding. Concurrently, common adulthood metabolic disorders like diabetes or dyslipidemia are also known to impair RBC rheology and deformability. Therefore, we aimed to investigate if these diseases affect the screening and diagnostic tools used for HS diagnosis. METHODS: We applied our workflow for HS diagnosis on 95 pathological samples: 29 patients with diabetes, 20 with hypercholesterolemia, 17 with dyslipidemia, 6 with hypertriglyceridemia, 23 with metabolic syndrome (MS). Thus, a total of 73 samples were analyzed by automated reticulocyte analysis, 52 by cryohemolysis test, and 41 by ektacytometry osmoscan analysis as we used two out of the three tests for each individual sample. RESULTS: Applying our screening algorithm based on automated reticulocyte indices, a total of 4 samples (4.2%): one sample (5%) from the diabetes group and three samples (16.7%) from the MS group, positioned into the HS zone. However, no significant difference was found between any of the pathological groups and the controls for the cryohemolysis test or the osmoscan. CONCLUSION: While diabetes and hypercholesterolemia are pathologic conditions known to present with decreased erythrocyte deformability and disturbed rheology, their possible concomitant presence with HS would not interfere with the screening and confirmatory laboratory methods.
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Diabetes Mellitus , Hipercolesterolemia , Esferocitosis Hereditaria , Adulto , Anciano , Niño , Diabetes Mellitus/diagnóstico , Humanos , Hipercolesterolemia/diagnóstico , Reticulocitos/metabolismo , Esferocitosis Hereditaria/diagnósticoRESUMEN
BACKGROUND: Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any complications at the ophthalmic and skin level. However, few cases are described in the literature. CASE PRESENTATION: A 14-month-old Congolese male child affected by oculocutaneous albinism, presented with pallor and jaundice. Blood indices revealed severe hemolytic anemia, which led to the diagnosis of sickle cell disease. The patient received a blood transfusion and close follow-up. CONCLUSIONS: The co-inheritance of sickle cell disease and oculocutaneous albinism is a reality in the Democratic Republic of Congo, although it is rarely described. Given the current state of our knowledge, specific surveillance, specifically regarding cutaneous and ophthalmological complications, should be offered in this particular population. To enable this dedicated follow-up, sensitization to screening for sickle cell anemia in albino individuals should be carried out.
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Albinismo Oculocutáneo , Anemia de Células Falciformes , Albinismo Oculocutáneo/genética , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/genética , Ojo , Humanos , Lactante , Masculino , PielRESUMEN
INTRODUCTION: hydroxyurea is the unique medication that has been proven to prevent complications in patients with sickle cell disease and is approved by the Food and Drug Administration. This medication requires a prescription to be dispensed, it must be available and at an affordable price. The purpose of this study was to determine the availability and market price of hydroxyurea in the Democratic Republic of the Congo and to make a comparison between these two aspects in a small city, such as Mbujimayi, and in a big city, such as Lubumbashi. METHODS: we conducted a cross-sectional study in the context of a face-to-face survey involving 188 Congolese pharmacies from 1st April to 1st September 2017. RESULTS: hydroxyurea was available at 41/188 (22%) participating pharmacies, but more frequently at those of a big city than at those of a small city (34/96 versus 7/92). Most patients got a prescription (36/41; 88%). The average price of hydroxyurea was $15 (from $10 to $35 a blister packs of 25 capsules), which was higher than the purchasing power of the majority of sickle cell patients. Hydroxyurea is still an imported product from Europe, the United States or Asia. CONCLUSIONS: hydroxyurea is one of the main treatments to slow down disease progression in sickle cell patients. Nevertheless, in the Democratic Republic of the Congo, its availability could be improved, in particular in small cities, and its price is still too high.
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Anemia de Células Falciformes/tratamiento farmacológico , Antidrepanocíticos/provisión & distribución , Hidroxiurea/provisión & distribución , Servicios Farmacéuticos/estadística & datos numéricos , Anemia de Células Falciformes/economía , Antidrepanocíticos/economía , Estudios Transversales , República Democrática del Congo , Costos de los Medicamentos/estadística & datos numéricos , Humanos , Hidroxiurea/economía , Servicios Farmacéuticos/economía , Encuestas y CuestionariosRESUMEN
BACKGROUND: Sickle cell disease (SCD) is a public health problem in the Democratic Republic of Congo. While reference sickle cell centers have been implemented in capital cities of African countries and have proven to be beneficial for SCD patients. In the Democratic Republic of Congo, they have never been set up in remote areas for families with low or very low sources of income. METHOD: A cohort of 143 children with SCD aged 10 years old (IQR (interquartile range): 6-15 years) (sex ratio male/female = 1.3) were clinically followed for 12 months without any specific intervention aside from the management of acute events, and then for 12 months with a monthly medical visit, biological follow-up, and chemoprophylaxis (folic acid/penicillin), adequate fluids and malaria prevention. RESULTS: The median age of patients at the diagnosis of SCD was 2 years (IQR: 1-5). The implementation of standardized and regular follow-ups in a new sickle cell reference center in a remote city showed an increase in the annual mean hemoglobin level from 50 to 70 g/L (p = 0.001), and a decrease in the lymphocyte count and spleen size (p < 0.001). A significant decrease (p < 0.001) in the average annual number of hospitalizations and episodes of vaso-occlusive crises, blood transfusions, infections, and acute chest syndromes were also observed. CONCLUSIONS: The creation of a sickle cell reference center and the regular follow-up of children with sickle cell disease are possible and applicable in the context of a remote city of an African country and represent simple and accessible measures that can reduce the morbimortality of children with sickle cell disease.
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Anemia de Células Falciformes , África , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/terapia , Transfusión Sanguínea , Niño , Preescolar , Congo/epidemiología , Femenino , Hospitalización , Humanos , Lactante , MasculinoRESUMEN
BACKGROUND: One objective of the Belgian Rare Diseases plan is to improve patients' management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new financing conditions and establishing reference laboratories. METHODS: A feasibility study was performed from May 2015 until August 2016 in order to select the financeable biochemical analyses, and, among them, those that should be performed by reference laboratories. This selection was based on an inventory of analyses used for rare diseases and a survey addressed to the Belgian laboratories of clinical pathology (investigating the annual analytical costs, volumes, turnaround times and the tests unavailable in Belgium and outsourced abroad). A proposal of financeable analyses, financing modalities, reference laboratories' scope and budget estimation was developed and submitted to the Belgian healthcare authorities. After its approval in December 2016, the implementation phase took place from January 2017 until December 2019. RESULTS: In 2019, new reimbursement conditions have been published for 46 analyses and eighteen reference laboratories have been recognized. Collaborations have also been developed with 5 foreign laboratories in order to organize the outsourcing and financing of 9 analyses unavailable in Belgium. CONCLUSIONS: In the context of clinical pathology and rare diseases, this initiative enabled to identify unreimbursed analyses and to meet the most crucial financial needs. It also contributed to improve patients' management by establishing Belgian reference laboratories and foreign referral laboratories for highly-specific analyses and a permanent surveillance, quality and financing framework for those tests.
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Pruebas Diagnósticas de Rutina , Enfermedades Raras , Bélgica , Presupuestos , Humanos , Laboratorios , Enfermedades Raras/diagnósticoRESUMEN
Rare inherited anemias are a subset of anemias caused by a genetic defect along one of the several stages of erythropoiesis or in different cellular components that affect red blood cell integrity, and thus its lifespan. Due to their low prevalence, several complications on growth and development, and multi-organ system damage are not yet well defined. Moreover, during the last decade there has been a lack of proper understanding of the impact of rare anemias on maternal and fetal outcomes. In addition, there are no clear-cut guidelines outlining the pathophysiological trends and management options unique to this special population. Here, we present on behalf of the European Hematology Association, evidence- and consensus-based guidelines, established by an international group of experts in different fields, including hematologists, gynecologists, general practitioners, medical geneticists, and experts in rare inherited anemias from various European countries for standardized and appropriate choice of therapeutic interventions for the management of pregnancy in rare inherited anemias, including Diamond-Blackfan Anemia, Congenital Dyserythropoietic Anemias, Thalassemia, Sickle Cell Disease, Enzyme deficiency and Red cell membrane disorders.
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BACKGROUND: Sickle cell disease is a major public health issue in the Democratic Republic of Congo (DRC), but it is still poorly understood by health professionals. The objective of this study was to assess the knowledge and practices of Congolese physicians treating sickle cell disease (SCD), in order to identify the areas for improvement in clinical care. METHODS: This was a descriptive observational study conducted among Congolese physicians using a questionnaire. Participants were evaluated using a pre-established answer grid. RESULTS: A total of 460 physicians participated, including 81 women (18%), with an average age of 35 years (range 25-60 years). Most physicians were general practitioners. Although self-assessment of their level of knowledge on SCD was estimated as average to good, less than half of the participants (n = 460; 46%) reported adequate management of vaso-occlusive crises, and only 1% of them had received specific training on SCD. Most physicians reported difficulties both in terms of diagnostic (65%) and management (79%) options of SCD patients. This study also showed that 85% of these physicians did not have access to the diagnostic tools for SCD. CONCLUSIONS: Insufficient knowledge on SCD and poor diagnostic and treatment options might contribute to increased morbidity and mortality of patients living in the DRC. Interventions aiming to improve physicians' knowledge, patient follow-up, and treatment access are needed. Specific training alongside existing programs (HIV, malaria), early diagnosis of the disease, and the creation of patient advocacy groups should be implemented to improve SCD patient care.
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INTRODUCTION: Several SARS-CoV-2 immunoassays have been developed recently. The purpose of this study was to assess the performance of five immunoassays for the detection of SARS-CoV-2 antibodies. METHODS: Two quantitative automated immunoassays (Maglumi™2019-n-Cov IgG and IgM and Euroimmun Anti-SARS-CoV-2 IgG and IgA assays) and three lateral flow rapid tests were performed. This retrospective study included 200 residual sera from patients and healthy volunteers. Case serum samples (n = 128) were obtained from COVID-19 patients confirmed by RT-qPCR and CT-scan. Days since onset of symptoms was collected from their medical records. Control non-SARS-CoV-2 samples (n = 72) were obtained from anonymous stored residual serum samples. RESULTS: Maglumi™ IgG/IgM tests showed overall less sensitivity than Euroimmun IgG/IgA test (84.4 % versus 64.3 %). Both tests showed similar specificities of IgG at 99 % and 100 %, respectively. The results from the lateral flow assays were easily interpretable with unambiguous coloured reading bands. The overall sensitivity of the three tests was similar (around 70 %) without any significant differences. The sensitivity of the three lateral flow assays and also of the serological quantitative assays increased during the second week after symptom onset and all reached similar values (91 %-94 %) after 14 days. CONCLUSION: This study shows accurate and equivalent performance of the five serological antibody assays (ELISA, CLIA and three lateral flow tests) in detecting SARS-CoV-2 antibodies 14 days after the onset of COVID-19 symptoms. This is compatible with their application in specific clinical contexts and in determining epidemiological strategies for the COVID-19 pandemic.
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Anticuerpos Antivirales/sangre , Betacoronavirus/inmunología , Infecciones por Coronavirus/diagnóstico , Ensayo de Inmunoadsorción Enzimática/métodos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Pandemias , Neumonía Viral/diagnóstico , Betacoronavirus/aislamiento & purificación , COVID-19 , Infecciones por Coronavirus/virología , Humanos , Inmunoensayo/métodos , Neumonía Viral/virología , Estudios Retrospectivos , SARS-CoV-2 , Sensibilidad y EspecificidadRESUMEN
OBJECTIVE: To assess the value of multiple serum biomarkers for the prediction of successful outcome of expectant management in women with tubal ectopic pregnancy (TEP). STUDY DESIGN: Women with a conclusive ultrasound diagnosis of TEP had a blood test to measure ß-human chorionic gonadotropin (ß-hCG), progesterone, inhibin A, activin A and high sensitivity C-reactive protein (hsCRP) at the initial visit. Women presenting with pain, serum ß-hCG ≥ 1500 IU, evidence of a live ectopic pregnancy or a significant haemoperitoneum were advised to have emergency surgery. Women eligible for expectant management were followed-up prospectively until serum ß-hCG declined to non-pregnant level or surgical treatment was required. RESULTS: A total of 93 women with a TEP were included in the final cohort. Emergency surgery was carried out in 42/93 (45 %) of women whilst 51/93 (55 %) were managed expectantly. Of the latter group, 42/51 (82 %) had successful expectant management and 9/51(18 %) required surgical procedure after a period of follow up. On multi-variable analysis, only higher values of serum ß-hCG and progesterone at the initial visit were associated with a lower chance of successful expectant management of TEP. A one-unit increase in either variable on the log-scale was associated with an approximate 20-fold reduction in the odds of a successful outcome. CONCLUSION(S): Serum ß-hCG and progesterone were significantly lower in women who had successful expectant management of TEP. Other biomarkers under consideration were not significantly different in women with successful and failed expectant management.
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Embarazo Ectópico , Embarazo Tubario , Biomarcadores , Gonadotropina Coriónica , Gonadotropina Coriónica Humana de Subunidad beta , Femenino , Humanos , Embarazo , Embarazo Ectópico/diagnóstico por imagen , Embarazo Ectópico/terapia , Embarazo Tubario/diagnóstico por imagen , Embarazo Tubario/cirugía , Espera VigilanteRESUMEN
INTRODUCTION: the implementation of neonatal screening to identify infants with sickle cell disease during the COVID-19 pandemic is a major challenge in the Democratic Republic of the Congo (DRC). The purpose of this study is to determine whether socio-economic factors are associated with acceptability of newborn screening to identify infants with sickle cell disease during the COVID-19 pandemic in Kisangani, DRC. METHODS: we conducted an observational study of mothers sensitized to neonatal screening to detect sickle cell disease in their newborns with hemotypeSCTM (HT401RUO-USA). The study was carried out at the maternity wards in Kisangani from March 21st to June 30th 2020. Collected data were parity, educational level, age, socio-economic level, occupation, awareness and the reason for the denial of screening. RESULTS: out of 55.5% (273/492) of sensitized mothers, 107 (39.19%) accepted and 166 (60.80%) refused neonatal screening to detect sickle cell disease in their newborn. The reasons for refusal were lack of information (67.5%; 95% CI [59.8-74.5]), lack of money due to confinement (66.3%; 95% CI [58.5-73.4]), blood test to develop a vaccine for protection against COVID-19 (63.2%; 95% CI = [55.4-70.6]). Factors associated with the acceptability of screening were age > 35 years (p = 0.0009; ORa = 3.04; 95% CI = 1.57-5.87) and low socio-economic level (p = 0.0016; ORa = 2.29; 95% CI = 1.37-3.85). CONCLUSION: the acceptability of neonatal screening to detect sickle cell disease during COVID-19 is low in Kisangani. The government should identify effective communication channels to promote health care initiatives.
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Anemia de Células Falciformes/diagnóstico , COVID-19 , Tamizaje Neonatal/métodos , Aceptación de la Atención de Salud/estadística & datos numéricos , Adolescente , Adulto , Factores de Edad , Comunicación , República Democrática del Congo , Femenino , Humanos , Recién Nacido , Madres/estadística & datos numéricos , Factores Socioeconómicos , Negativa del Paciente al Tratamiento/estadística & datos numéricos , Adulto JovenRESUMEN
Since developments are global in the healthcare arena, more should be done to align EU and other big markets' regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders' involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.
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Contexte et objectifs. L'hydroxyurée est connu efficace dans la prise en charge des crises drépanocytaires. L'objectif de la présente étude était d'établir la disponibilité et d'évaluer le cout moyen de ce médicament en République Démocratique du Congo (RDC). Méthodes. Une étude transversale descriptive a été réalisée dans 188 pharmacies de deux villes (une grande, Lubumbashi versus une enclavée, Mbuji Mayi en RDC, entre les 1er avril et 1er septembre 2017. Seules des questions fermées ont été posées, avec des choix soit dichotomiques soit multiples. Résultats. L'hydroxyurée n'était disponible que dans 22% des pharmacies participantes (41/188) et beaucoup plus fréquemment dans celles d'une grande ville que dans celles d'une ville reculée (34/96 contre 7/92). La plupart des patients ont présenté une ordonnance médicale (36/41 soit 88% d'entre eux) pour obtenir le médicament. Le prix de l'hydroxyurée variait entre 10 et 35 $, avec un prix moyen de 15 $ pour une boîte de 25 gélules. Ce prix est onéreux pour le pouvoir d'achat de la majorité des patients drépanocytaires. Conclusions. Cette étude montre que l'hydroxyurée est à la fois peu disponible dans les pharmacies en RDC et peu accessible financièrement pour beaucoup de patients drépanocytaires